Q40R (p.Gln40Arg) variant of AGL (Glycogen debranching enzyme)
Q40R (p.Gln40Arg) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
Q40R (p.Gln40Arg) variant details
- p.Gln40Arg
- gnomAD rs1364402397
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.41
- MetaLR 0.12
- MetaSVM -0.94
- CADD 23.40
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available